Detalhe da pesquisa
1.
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
Proc Natl Acad Sci U S A
; 116(3): 970-975, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591564
2.
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
Hum Mutat
; 38(10): 1355-1359, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28585352
3.
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
J Allergy Clin Immunol
; 137(6): 1780-1787, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26915675
4.
Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.
J Allergy Clin Immunol
; 138(1): 241-248.e3, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26936803
5.
Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome.
J Pediatr Hematol Oncol
; 32(6): 494-6, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20661159
6.
A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations.
J Clin Invest
; 127(12): 4415-4420, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29106381
7.
Invasive mucormycosis in chronic granulomatous disease.
Saudi Med J
; 37(5): 567-9, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27146621
8.
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.
J Clin Invest
; 126(11): 4219-4236, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27760045
9.
Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
Medicine (Baltimore)
; 92(2): 109-122, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23429356